Canonical Allele Identifier: CA2673822571

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098691-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098691T>C , CM000667.2:g.53098691T>C	GRCh38
NC_000005.9:g.52394521T>C , CM000667.1:g.52394521T>C	GRCh37
NC_000005.8:g.52430278T>C	NCBI36
NG_008435.2:g.16078A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.502-24A>G MANE Select	ENSP00000380157.3:n.502-24A>G
ENST00000450852.8:c.*422-24A>G MANE Plus Clinical	ENSP00000411022.3:n.*422-24A>G
ENST00000361377.8:c.*271-24A>G	ENSP00000355160.4:n.*271-24A>G
ENST00000396954.7:c.502-24A>G	ENSP00000380157.3:n.502-24A>G
ENST00000450852.7:c.*422-24A>G	ENSP00000411022.3:n.*422-24A>G
ENST00000502402.5:n.2249-24A>G
ENST00000508922.5:c.*318A>G	ENSP00000426274.1:n.*318A>G
ENST00000510818.6:c.*375-24A>G	ENSP00000424267.2:n.*375-24A>G
ENST00000582677.5:c.*143-24A>G	ENSP00000462870.1:n.*143-24A>G
ENST00000584946.5:c.*294-24A>G	ENSP00000464663.1:n.*294-24A>G
NM_004531.4:c.502-24A>G	NP_004522.1:n.502-24A>G
NM_176806.3:c.*422-24A>G	NP_789776.1:n.*422-24A>G
NM_004531.5:c.502-24A>G MANE Select	NP_004522.1:n.502-24A>G
NM_176806.4:c.*422-24A>G MANE Plus Clinical	NP_789776.1:n.*422-24A>G